Please use this identifier to cite or link to this item: https://doi.org/10.1586/14737159.6.3.365
Title: Congenital long QT syndromes: Clinical features, molecular genetics and genetic testing
Authors: Ching, C.-K.
Tan, E.-C. 
Keywords: Cardiac arrhythmia
Channelopathy
Genetic testing
Mutation
QT interval
Sudden cardiac death
Issue Date: 2006
Citation: Ching, C.-K., Tan, E.-C. (2006). Congenital long QT syndromes: Clinical features, molecular genetics and genetic testing. Expert Review of Molecular Diagnostics 6 (3) : 365-374. ScholarBank@NUS Repository. https://doi.org/10.1586/14737159.6.3.365
Abstract: Congenital long QT syndrome (LQTS) is a primary electrical disease characterized by a prolonged QT interval in the surface electrocardiogram and increased predisposition to a typical polymorphic ventricular tachycardia, termed Torsade de Pointes. Most patients with LQTS are asymptomatic and are diagnosed incidentally based on an electrocardiogram. Symptomatic patients may suffer from severe cardiac events, such as syncope and/or sudden cardiac death. Autosomal dominant forms are caused by heterozygous mutations in genes encoding the components of the ion channels. The autosomal recessive form with congenital deafness is also known as Jervell and Lang-Nielsen syndrome. It is caused by homozygous mutations or certain compound heterozygous mutations. Depending on the genetic defects, there are differences in the age of onset, severity of symptoms, and number of cardiac events and event triggers. With advances in gene technology, it is now feasible to perform genetic testing for LQTS, especially for those with family history. Identification of the mutation will lead to better management of symptoms and more targeted treatment, depending on the underlying genetic defect, resulting in a reduction of mortality and cardiac events. © 2006 Future Drugs Ltd.
Source Title: Expert Review of Molecular Diagnostics
URI: http://scholarbank.nus.edu.sg/handle/10635/109832
ISSN: 14737159
DOI: 10.1586/14737159.6.3.365
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.

SCOPUSTM   
Citations

11
checked on Sep 11, 2018

WEB OF SCIENCETM
Citations

6
checked on Sep 11, 2018

Page view(s)

84
checked on Aug 10, 2018

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.